Associated Papers
Placental vascular abnormality is associated with worse neurodevelopmental outcomes for infants with congenital heart disease and genetic abnormality.
Meyer KL et al.
Early Human Development, 2026
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Human Genetics of Atrioventricular Septal Defect.
Maslen CL
Advances in Experimental Medicine and Biology, 2024
Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.
Bolunduț AC et al.
Children (basel, Switzerland), 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.
Zaidi AH et al.
Children (basel, Switzerland), 2021
Genetics of atrioventricular canal defects.
Pugnaloni F et al.
Italian Journal of Pediatrics, 2020
The utility of exome sequencing for fetal pleural effusions.
Jelin AC et al.
Prenatal Diagnosis, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.
Digilio MC et al.
Clinical Genetics, 2019
CRELD1 gene variants and atrioventricular septal defects in Down syndrome.
Asim A et al.
Gene, 2018
Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects.
Redig JK et al.
Aims Genetics, 2014
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
Ackerman C et al.
American Journal of Human Genetics, 2012
Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.
Zhian S et al.
American Journal of Medical Genetics. Part A, 2012
Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.
Li H et al.
Circulation. Cardiovascular Genetics, 2012
Novel CRELD1 gene mutations in patients with atrioventricular septal defect.
Guo Y et al.
World Journal of Pediatrics : Wjp, 2010
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.
Maslen CL et al.
American Journal of Medical Genetics. Part A, 2006
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.
Robinson SW et al.
American Journal of Human Genetics, 2003
A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India.
Kusuma L et al.
Genetic Testing and Molecular Biomarkers, 0